#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
STAT4	6775	broad.mit.edu	37	2	191926496	191926496	+	Silent	SNP	C	C	T	rs559315611		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:191926496C>T	ENST00000392320.2	-	10	1307	c.993G>A	c.(991-993)ccG>ccA	p.P331P	STAT4_ENST00000358470.4_Silent_p.P331P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	331					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TAAGTACCAACGGCCTCTGAG	0.393													C|||	1	0.000199681	0.0	0.0	5008	,	,		20647	0.0		0.001	False		,,,				2504	0.0					ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(991-993)ccG>ccA		signal transducer and activator of transcription 4							237.0	248.0	245.0					2																	191926496		2203	4300	6503	SO:0001819	synonymous_variant	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191926496C>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.993G>A	2.37:g.191926496C>T						STAT4_ENST00000358470.4_Silent_p.P331P	p.P331P	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		10	1307	-			331					Q96NZ6	Silent	SNP	ENST00000392320.2	37	c.993G>A	CCDS2310.1																																																																																				0.393	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		13	154	0	0	0	1	0	13	154				
OAS2	4939	broad.mit.edu	37	12	113425106	113425106	+	Silent	SNP	C	C	T	rs369863340	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:113425106C>T	ENST00000342315.4	+	2	655	c.441C>T	c.(439-441)aaC>aaT	p.N147N	OAS2_ENST00000449768.2_Silent_p.N147N|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Silent_p.N147N	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	147	OAS domain 1.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCGCCTTCAACGCTCTGAGTA	0.493													C|||	2	0.000399361	0.0	0.0014	5008	,	,		19067	0.0		0.0	False		,,,				2504	0.001				Pancreas(199;709 2232 18410 33584 35052)	ENST00000392583.2																			0				NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						c.(439-441)aaC>aaT		2'-5'-oligoadenylate synthetase 2, 69/71kDa		C	,,	0,4406		0,0,2203	48.0	51.0	50.0		441,441,441	-6.3	0.1	12		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OAS2	NM_001032731.1,NM_002535.2,NM_016817.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	147/173,147/688,147/720	113425106	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	g.chr12:113425106C>T	M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.441C>T	12.37:g.113425106C>T						OAS2_ENST00000342315.4_Silent_p.N147N|RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000449768.2_Silent_p.N147N	p.N147N	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN			2	648	+			147			OAS domain 1.		A8K9T1|Q6PJ33|Q86XX8	Silent	SNP	ENST00000342315.4	37	c.441C>T	CCDS31906.1																																																																																				0.493	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405937.1			21	19	0	0	0	1	0	21	19				
ANKMY1	51281	broad.mit.edu	37	2	241468502	241468502	+	Missense_Mutation	SNP	T	T	A	rs199953888	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:241468502T>A	ENST00000272972.3	-	4	852	c.638A>T	c.(637-639)aAt>aTt	p.N213I	ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N302I|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000391987.1_Missense_Mutation_p.N213I|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron	NM_016552.2	NP_057636.2	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	213							metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		AGGGGTCTCATTGATTATGAA	0.512																																						ENST00000391987.1																			0				central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30						c.(637-639)aAt>aTt		ankyrin repeat and MYND domain containing 1							157.0	158.0	158.0					2																	241468502		2203	4300	6503	SO:0001583	missense	51281						zinc ion binding	g.chr2:241468502T>A	AB034636	CCDS2535.1, CCDS2536.1, CCDS63184.1, CCDS63185.1, CCDS74681.1	2q37.3	2013-01-10			ENSG00000144504	ENSG00000144504		"""Zinc fingers, MYND-type"", ""Ankyrin repeat domain containing"""	20987	protein-coding gene	gene with protein product							Standard	XM_005247020		Approved	FLJ20499, ZMYND13	uc002vyz.1	Q9P2S6	OTTHUMG00000133355	ENST00000272972.3:c.638A>T	2.37:g.241468502T>A	ENSP00000272972:p.Asn213Ile					ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.N302I|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.N213I|ANKMY1_ENST00000406958.1_Intron	p.N213I			Q9P2S6	ANKY1_HUMAN		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)	5	1004	-		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	213					B2RB78|Q4ZFV3|Q8IYX5|Q8NDK5|Q9H0V8|Q9NX10	Missense_Mutation	SNP	ENST00000272972.3	37	c.638A>T	CCDS2536.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.70|13.70	2.314542|2.314542	0.40996|0.40996	.|.	.|.	ENSG00000144504|ENSG00000144504	ENST00000272972;ENST00000391987;ENST00000401804;ENST00000539830;ENST00000418708|ENST00000443318	T;T;T;T|.	0.59906|.	0.28;0.28;0.23;1.22|.	4.79|4.79	4.79|4.79	0.61399|0.61399	.|.	0.384459|.	0.25526|.	N|.	0.030075|.	T|T	0.72692|0.72692	0.3492|0.3492	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	P;P|.	0.45428|.	0.858;0.858|.	B;B|.	0.37550|.	0.253;0.253|.	T|T	0.73959|0.73959	-0.3818|-0.3818	10|5	0.87932|.	D|.	0|.	-16.7088|-16.7088	12.5648|12.5648	0.56304|0.56304	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	213;213|.	Q4ZFV3;Q9P2S6|.	.;ANKY1_HUMAN|.	I|H	213;213;302;213;213|157	ENSP00000272972:N213I;ENSP00000375847:N213I;ENSP00000385887:N302I;ENSP00000407015:N213I|.	ENSP00000272972:N213I|.	N|Q	-|-	2|3	0|2	ANKMY1|ANKMY1	241117175|241117175	1.000000|1.000000	0.71417|0.71417	0.085000|0.085000	0.20634|0.20634	0.074000|0.074000	0.17049|0.17049	5.342000|5.342000	0.65970|0.65970	1.923000|1.923000	0.55706|0.55706	0.533000|0.533000	0.62120|0.62120	AAT|CAA		0.512	ANKMY1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000257187.2	NM_017844		29	47	0	0	0	1	0	29	47				
TENM2	57451	broad.mit.edu	37	5	167645509	167645509	+	Missense_Mutation	SNP	C	C	T	rs370446142		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr5:167645509C>T	ENST00000518659.1	+	23	4652	c.4613C>T	c.(4612-4614)gCg>gTg	p.A1538V	TENM2_ENST00000520394.1_Missense_Mutation_p.A1299V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1537V|TENM2_ENST00000519204.1_Missense_Mutation_p.A1417V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1362V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1538					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GATGCCTACGCGACTGATGCC	0.502																																						ENST00000519204.1																			0											c.(4249-4251)gCg>gTg		teneurin transmembrane protein 2		C	VAL/ALA	0,4102		0,0,2051	189.0	186.0	187.0		4586	5.9	0.8	5		187	1,8409		0,1,4204	no	missense	ODZ2	NM_001122679.1	64	0,1,6255	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	1529/2766	167645509	1,12511	2051	4205	6256	SO:0001583	missense	57451							g.chr5:167645509C>T	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4613C>T	5.37:g.167645509C>T	ENSP00000429430:p.Ala1538Val					TENM2_ENST00000518659.1_Missense_Mutation_p.A1538V|TENM2_ENST00000545108.1_Missense_Mutation_p.A1537V|TENM2_ENST00000520394.1_Missense_Mutation_p.A1299V|TENM2_ENST00000403607.2_Missense_Mutation_p.A1362V	p.A1417V							22	4368	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4250C>T		.	.	.	.	.	.	.	.	.	.	C	27.2	4.808693	0.90707	0.0	1.19E-4	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.92805	-2.65;-2.64;-2.76;-3.08;-3.11	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.97673	0.9237	H	0.96398	3.815	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.987	D	0.97948	1.0330	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1537;1538;1299	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	V	1538;1537;1417;1299;1362	ENSP00000429430:A1538V;ENSP00000438635:A1537V;ENSP00000428964:A1417V;ENSP00000427874:A1299V;ENSP00000384905:A1362V	ENSP00000384905:A1362V	A	+	2	0	ODZ2	167578087	1.000000	0.71417	0.784000	0.31847	0.952000	0.60782	7.818000	0.86416	2.824000	0.97209	0.655000	0.94253	GCG		0.502	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		55	101	0	0	0	1	0	55	101				
ESRRA	2101	broad.mit.edu	37	11	64082580	64082580	+	Silent	SNP	C	C	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr11:64082580C>T	ENST00000405666.1	+	6	1084	c.850C>T	c.(850-852)Ctg>Ttg	p.L284L	ESRRA_ENST00000406310.1_Silent_p.L283L|PRDX5_ENST00000265462.4_5'Flank|ESRRA_ENST00000000442.6_Silent_p.L284L	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	284	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GCAGGATGAGCTGGCCTTCGC	0.642																																						ENST00000405666.1																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						c.(850-852)Ctg>Ttg		estrogen-related receptor alpha							23.0	25.0	24.0					11																	64082580		2100	4215	6315	SO:0001819	synonymous_variant	2101				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr11:64082580C>T	X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.850C>T	11.37:g.64082580C>T						ESRRA_ENST00000000442.6_Silent_p.L284L|ESRRA_ENST00000406310.1_Silent_p.L283L	p.L284L			P11474	ERR1_HUMAN			6	1084	+			284			Ligand binding domain.		Q14514	Silent	SNP	ENST00000405666.1	37	c.850C>T	CCDS41667.1																																																																																				0.642	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451		3	25	0	0	0	1	0	3	25				
LINC00969	440993	broad.mit.edu	37	3	195395402	195395402	+	lincRNA	SNP	C	C	A	rs199554501	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr3:195395402C>A	ENST00000445430.1	+	0	809									long intergenic non-protein coding RNA 969																		TACGGGCGCACCTACTTGAGC	0.597																																						ENST00000445430.1																			0																																																			0							g.chr3:195395402C>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395402C>A														0	809	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.597	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	19	1	0	0.014758	1	0.014758	3	19				
CYP19A1	1588	broad.mit.edu	37	15	51520089	51520089	+	Missense_Mutation	SNP	C	C	A			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr15:51520089C>A	ENST00000396402.1	-	4	491	c.338G>T	c.(337-339)aGc>aTc	p.S113I	CYP19A1_ENST00000405913.3_Missense_Mutation_p.S113I|CYP19A1_ENST00000559878.1_Missense_Mutation_p.S113I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S113I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S113I|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S113I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN	cytochrome P450, family 19, subfamily A, polypeptide 1	113					androgen metabolic process (GO:0008209)|estrogen biosynthetic process (GO:0006703)|prostate gland growth (GO:0060736)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)	aromatase activity (GO:0070330)|electron carrier activity (GO:0009055)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Betamethasone(DB00443)|Bifonazole(DB04794)|Buserelin(DB06719)|Carbimazole(DB00389)|Chlorphenesin(DB00856)|Clomifene(DB00882)|Clotrimazole(DB00257)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Dinoprostone(DB00917)|Drostanolone(DB00858)|Econazole(DB01127)|Edetic Acid(DB00974)|Etomidate(DB00292)|Exemestane(DB00990)|Ketoconazole(DB01026)|Letrozole(DB01006)|Levomethadyl Acetate(DB01227)|Levonorgestrel(DB00367)|Mefloquine(DB00358)|Melatonin(DB01065)|Methadone(DB00333)|Methyltestosterone(DB06710)|Miconazole(DB01110)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nicotine(DB00184)|Paclitaxel(DB01229)|Raloxifene(DB00481)|Sulfathiazole(DB06147)|Tamoxifen(DB00675)|Terbinafine(DB00857)|Testolactone(DB00894)|Testosterone(DB00624)|Tioconazole(DB01007)|Trastuzumab(DB00072)	GAATCGAGAGCTGTAATGATT	0.443																																					Melanoma(142;1016 1807 39614 48966 51721)	ENST00000396402.1																			0				endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33						c.(337-339)aGc>aTc		cytochrome P450, family 19, subfamily A, polypeptide 1	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)						133.0	112.0	119.0					15																	51520089		2196	4293	6489	SO:0001583	missense	0				estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity	g.chr15:51520089C>A	D14473	CCDS10139.1	15q21	2009-01-26	2003-02-14	2003-02-28	ENSG00000137869	ENSG00000137869		"""Cytochrome P450s"""	2594	protein-coding gene	gene with protein product		107910	"""cytochrome P450, subfamily XIX (aromatization of androgens)"""	CYP19		8477708	Standard	NM_031226		Approved	ARO, P-450AROM, CPV1, ARO1, CYAR, aromatase	uc001zza.4	P11511	OTTHUMG00000131747	ENST00000396402.1:c.338G>T	15.37:g.51520089C>A	ENSP00000379683:p.Ser113Ile					CYP19A1_ENST00000559878.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000396404.4_Missense_Mutation_p.S113I|RP11-108K3.1_ENST00000559909.1_lincRNA|CYP19A1_ENST00000557858.1_Missense_Mutation_p.S113I|CYP19A1_ENST00000405913.3_Missense_Mutation_p.S113I|CYP19A1_ENST00000260433.2_Missense_Mutation_p.S113I	p.S113I	NM_000103.3	NP_000094.2	P11511	CP19A_HUMAN		all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	4	491	-			113					Q16731|Q3B764|Q58FA0|Q8IYJ7	Missense_Mutation	SNP	ENST00000396402.1	37	c.338G>T	CCDS10139.1	.	.	.	.	.	.	.	.	.	.	C	4.856	0.159110	0.09236	.	.	ENSG00000137869	ENST00000396402;ENST00000260433;ENST00000541721;ENST00000396404;ENST00000420301;ENST00000439712;ENST00000405913;ENST00000453807;ENST00000405011	T;T;T;T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32	5.81	-9.54	0.00572	.	0.681915	0.16246	N	0.222910	T	0.24275	0.0588	N	0.00707	-1.245	0.09310	N	1	B;B	0.25521	0.128;0.023	B;B	0.31869	0.137;0.073	T	0.41270	-0.9518	10	0.31617	T	0.26	-0.0022	5.4555	0.16588	0.2518:0.4947:0.1664:0.0871	.	113;113	Q8IYJ7;P11511	.;CP19A_HUMAN	I	113	ENSP00000379683:S113I;ENSP00000260433:S113I;ENSP00000379685:S113I;ENSP00000390614:S113I;ENSP00000383930:S113I;ENSP00000391139:S113I;ENSP00000384389:S113I	ENSP00000260433:S113I	S	-	2	0	CYP19A1	49307381	0.001000	0.12720	0.002000	0.10522	0.003000	0.03518	0.057000	0.14279	-1.675000	0.01459	-1.014000	0.02459	AGC		0.443	CYP19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254669.1			14	27	1	0	4.3838e-07	1	4.98159e-07	14	27				
ASIC3	9311	broad.mit.edu	37	7	150746113	150746113	+	Silent	SNP	G	G	A	rs143167179	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr7:150746113G>A	ENST00000349064.5	+	1	339	c.141G>A	c.(139-141)gcG>gcA	p.A47A	ASIC3_ENST00000357922.4_Silent_p.A47A|ASIC3_ENST00000297512.8_Silent_p.A47A	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	47					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										TGTGGGCAGCGGCCGTGGTCC	0.662													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		15273	0.0		0.0	False		,,,				2504	0.0					ENST00000357922.4																			0											c.(139-141)gcG>gcA		acid-sensing (proton-gated) ion channel 3		G	,,	1,4405	2.1+/-5.4	0,1,2202	49.0	47.0	47.0		141,141,141	-9.9	0.0	7	dbSNP_134	47	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	ACCN3	NM_004769.2,NM_020321.2,NM_020322.2	,,	0,6,6497	AA,AG,GG		0.0581,0.0227,0.0461	,,	47/532,47/550,47/544	150746113	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	9311				sensory perception|signal transduction	cytoplasm|integral to plasma membrane	ligand-gated sodium channel activity	g.chr7:150746113G>A	AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.141G>A	7.37:g.150746113G>A						ASIC3_ENST00000349064.5_Silent_p.A47A|ASIC3_ENST00000297512.8_Silent_p.A47A	p.A47A	NM_020322.3	NP_064718.1	Q9UHC3	ACCN3_HUMAN			1	735	+			47					B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Silent	SNP	ENST00000349064.5	37	c.141G>A	CCDS5916.1																																																																																				0.662	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351725.1	NM_004769		4	48	0	0	0	1	0	4	48				
DNAH10	196385	broad.mit.edu	37	12	124332605	124332605	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr12:124332605G>T	ENST00000409039.3	+	32	5583	c.5558G>T	c.(5557-5559)tGt>tTt	p.C1853F		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1853	AAA 1. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCTTGCTCTGTGTTGTCACC	0.587																																						ENST00000409039.3																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(5557-5559)tGt>tTt		dynein, axonemal, heavy chain 10							128.0	130.0	129.0					12																	124332605		2038	4210	6248	SO:0001583	missense	196385				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr12:124332605G>T	AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.5558G>T	12.37:g.124332605G>T	ENSP00000386770:p.Cys1853Phe						p.C1853F	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)	32	5583	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1853			AAA 1 (By similarity).		C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Missense_Mutation	SNP	ENST00000409039.3	37	c.5558G>T	CCDS9255.2	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820985	0.90873	.	.	ENSG00000197653	ENST00000409039	T	0.34072	1.38	5.67	5.67	0.87782	ATPase, AAA+ type, core (1);	0.064266	0.64402	U	0.000004	T	0.67942	0.2947	M	0.86953	2.85	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72956	-0.4134	10	0.87932	D	0	.	19.7654	0.96337	0.0:0.0:1.0:0.0	.	1853	Q8IVF4	DYH10_HUMAN	F	1853	ENSP00000386770:C1853F	ENSP00000386770:C1853F	C	+	2	0	DNAH10	122898558	1.000000	0.71417	0.949000	0.38748	0.867000	0.49689	9.853000	0.99521	2.678000	0.91216	0.555000	0.69702	TGT		0.587	DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3			33	51	1	0	3.99451e-17	1	4.75537e-17	33	51				
MED15	51586	broad.mit.edu	37	22	20891439	20891439	+	Missense_Mutation	SNP	G	G	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr22:20891439G>T	ENST00000263205.7	+	2	173	c.104G>T	c.(103-105)aGt>aTt	p.S35I	MED15_ENST00000542773.1_5'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.S9I|MED15_ENST00000382974.2_Missense_Mutation_p.S35I|MED15_ENST00000425759.2_5'UTR|MED15_ENST00000406969.1_Missense_Mutation_p.S9I|MED15_ENST00000292733.7_Missense_Mutation_p.S35I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	35	Interaction with SREBF1.				gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGGCACACAGTAAATCCAGC	0.552																																						ENST00000263205.7																			0				central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25						c.(103-105)aGt>aTt		mediator complex subunit 15							180.0	153.0	162.0					22																	20891439		2203	4300	6503	SO:0001583	missense	51586				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding	g.chr22:20891439G>T	AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.104G>T	22.37:g.20891439G>T	ENSP00000263205:p.Ser35Ile					MED15_ENST00000382974.2_Missense_Mutation_p.S35I|MED15_ENST00000425759.2_5'UTR|MED15_ENST00000541476.1_Missense_Mutation_p.S9I|MED15_ENST00000542773.1_5'UTR|MED15_ENST00000292733.7_Missense_Mutation_p.S35I|MED15_ENST00000406969.1_Missense_Mutation_p.S9I	p.S35I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)		2	173	+	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	35			Interaction with SREBF1.		D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Missense_Mutation	SNP	ENST00000263205.7	37	c.104G>T	CCDS33602.1	.	.	.	.	.	.	.	.	.	.	G	13.69	2.313692	0.40996	.	.	ENSG00000099917	ENST00000445987;ENST00000414658;ENST00000432052;ENST00000292733;ENST00000263205;ENST00000406969;ENST00000382974;ENST00000541476;ENST00000438962;ENST00000445189;ENST00000542312;ENST00000451058	.	.	.	5.7	3.63	0.41609	Mediator complex, subunit Med15, metazoa (1);	0.205257	0.49916	D	0.000133	T	0.50377	0.1612	L	0.50333	1.59	0.80722	D	1	P;P;P;P;P	0.50369	0.934;0.919;0.919;0.934;0.899	P;P;P;P;P	0.49637	0.617;0.483;0.483;0.617;0.466	T	0.53507	-0.8429	9	0.87932	D	0	.	5.315	0.15850	0.1748:0.1689:0.6563:0.0	.	54;9;35;35;35	Q6PKB8;G3V1P5;Q96RN5-2;Q96RN5;Q96RN5-3	.;.;.;MED15_HUMAN;.	I	9;9;9;35;35;9;35;9;109;9;9;9	.	ENSP00000263205:S35I	S	+	2	0	MED15	19221439	0.998000	0.40836	1.000000	0.80357	0.640000	0.38277	0.383000	0.20651	1.426000	0.47256	0.655000	0.94253	AGT		0.552	MED15-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320177.2	NM_015889		14	27	1	0	9.31168e-06	1	1.01214e-05	14	27				
DYNC2LI1	51626	broad.mit.edu	37	2	44021826	44021826	+	Intron	SNP	T	T	A	rs9309107	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr2:44021826T>A	ENST00000260605.8	+	6	607				DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.F184Y|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000605786.1_Intron|DYNC2LI1_ENST00000489222.2_Intron	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)	apical part of cell (GO:0045177)|axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|cytosol (GO:0005829)|intraciliary transport particle (GO:0030990)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|primary cilium (GO:0072372)	motor activity (GO:0003774)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TTAGTCCCATTTATAGTTAAT	0.343													A|||	2262	0.451677	0.7262	0.4654	5008	,	,		18661	0.1895		0.326	False		,,,				2504	0.4703					ENST00000406852.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26						c.(550-552)tTt>tAt		dynein, cytoplasmic 2, light intermediate chain 1		A	,TYR/PHE,	2915,1491	456.1+/-351.2	990,935,278	92.0	99.0	96.0		,551,	0.9	0.0	2	dbSNP_119	96	2828,5772	675.0+/-403.2	471,1886,1943	yes	intron,missense,intron	DYNC2LI1	NM_001193464.1,NM_015522.3,NM_016008.3	,22,	1461,2821,2221	AA,AT,TT		32.8837,33.8402,44.1565	,,	,184/202,	44021826	5743,7263	2203	4300	6503	SO:0001627	intron_variant	51626					apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity	g.chr2:44021826T>A		CCDS1813.1, CCDS46270.1, CCDS62903.1	2p25.1-p24.1	2008-02-05			ENSG00000138036	ENSG00000138036		"""Cytoplasmic dyneins"""	24595	protein-coding gene	gene with protein product						10810093, 11907264	Standard	NM_016008		Approved	D2LIC, LIC3, CGI-60, DKFZP564A033	uc002rtl.3	Q8TCX1	OTTHUMG00000128656	ENST00000260605.8:c.507+44T>A	2.37:g.44021826T>A						DYNC2LI1_ENST00000260605.8_Intron|DYNC2LI1_ENST00000443170.3_Intron|DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000489222.2_Intron|DYNC2LI1_ENST00000605786.1_Intron	p.F184Y	NM_015522.3	NP_056337.1	Q8TCX1	DC2L1_HUMAN			6	641	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	0					A8MVJ5|Q53F57|Q6PDB2|Q8IWA3|Q96B03|Q96J00|Q9Y370|Q9Y3S9	Missense_Mutation	SNP	ENST00000260605.8	37	c.551T>A	CCDS1813.1	884	0.40476190476190477	361	0.733739837398374	172	0.47513812154696133	108	0.1888111888111888	243	0.32058047493403696	A	4.001	-0.002468	0.07819	0.661598	0.328837	ENSG00000138036	ENST00000406852	T	0.32023	1.47	4.45	0.913	0.19354	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.22591	-1.0212	7	0.87932	D	0	.	5.1073	0.14790	0.6522:0.0:0.2213:0.1265	rs9309107;rs52802708;rs59663186;rs9309107	184	Q8TCX1-4	.	Y	184	ENSP00000385738:F184Y	ENSP00000385738:F184Y	F	+	2	0	DYNC2LI1	43875330	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.411000	0.21115	0.048000	0.15891	-1.185000	0.01705	TTT		0.343	DYNC2LI1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000250536.2	NM_016008		5	22	0	0	0	1	0	5	22				
NUDT5	11164	broad.mit.edu	37	10	12228270	12228270	+	Silent	SNP	C	C	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr10:12228270C>T	ENST00000491614.1	-	2	416	c.21G>A	c.(19-21)acG>acA	p.T7T	NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378927.3_Silent_p.T7T|NUDT5_ENST00000378937.3_Silent_p.T7T|NUDT5_ENST00000537776.1_Silent_p.T7T|NUDT5_ENST00000378940.3_Silent_p.T7T			Q9UKK9	NUDT5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 5	7					D-ribose catabolic process (GO:0019303)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|ribonucleoside diphosphate catabolic process (GO:0009191)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)|magnesium ion binding (GO:0000287)|nucleoside-diphosphatase activity (GO:0017110)|snoRNA binding (GO:0030515)			breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8		Renal(717;0.228)				GAGAAGATTCCGTTGGTTCTT	0.398																																						ENST00000491614.1																			0				breast(1)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)	8						c.(19-21)acG>acA		nudix (nucleoside diphosphate linked moiety X)-type motif 5							176.0	166.0	169.0					10																	12228270		2203	4300	6503	SO:0001819	synonymous_variant	11164				D-ribose catabolic process|ribonucleoside diphosphate catabolic process	intracellular	ADP-ribose diphosphatase activity|magnesium ion binding	g.chr10:12228270C>T	AF155832	CCDS7089.1	10p14	2008-05-14			ENSG00000165609	ENSG00000165609		"""Nudix motif containing"""	8052	protein-coding gene	gene with protein product		609230				10373642	Standard	NM_014142		Approved	hYSAH1, YSA1H	uc001ilj.3	Q9UKK9	OTTHUMG00000017682	ENST00000491614.1:c.21G>A	10.37:g.12228270C>T						NUDT5_ENST00000378952.3_5'UTR|NUDT5_ENST00000378937.3_Silent_p.T7T|NUDT5_ENST00000537776.1_Silent_p.T7T|NUDT5_ENST00000378940.3_Silent_p.T7T|NUDT5_ENST00000378927.3_Silent_p.T7T	p.T7T			Q9UKK9	NUDT5_HUMAN			2	416	-		Renal(717;0.228)	7					A8K516|Q6IAG0|Q9UH49	Silent	SNP	ENST00000491614.1	37	c.21G>A	CCDS7089.1																																																																																				0.398	NUDT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046811.1			8	45	0	0	0	1	0	8	45				
LYST	1130	broad.mit.edu	37	1	235952076	235952076	+	Missense_Mutation	SNP	T	T	C			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr1:235952076T>C	ENST00000389794.3	-	13	4787	c.4613A>G	c.(4612-4614)cAt>cGt	p.H1538R	LYST_ENST00000389793.2_Missense_Mutation_p.H1538R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1538					blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TGAAATTATATGAATACATCC	0.413																																						ENST00000389794.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162						c.(4612-4614)cAt>cGt		lysosomal trafficking regulator							98.0	87.0	91.0					1																	235952076		2203	4300	6503	SO:0001583	missense	1130				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	g.chr1:235952076T>C	U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.4613A>G	1.37:g.235952076T>C	ENSP00000374444:p.His1538Arg					LYST_ENST00000389793.2_Missense_Mutation_p.H1538R|LYST_ENST00000536965.1_3'UTR	p.H1538R			Q99698	LYST_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000674)		13	4787	-	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	1538					O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	Missense_Mutation	SNP	ENST00000389794.3	37	c.4613A>G	CCDS31062.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.229723	0.79688	.	.	ENSG00000143669	ENST00000389794;ENST00000389793	T;T	0.78481	-1.18;-1.18	5.4	5.4	0.78164	.	4.311150	0.00465	N	0.000114	D	0.82582	0.5068	M	0.71581	2.175	0.80722	D	1	P	0.52577	0.954	B	0.43575	0.424	T	0.72023	-0.4415	10	0.87932	D	0	.	13.9927	0.64376	0.0:0.0:0.0:1.0	.	1538	Q99698	LYST_HUMAN	R	1538	ENSP00000374444:H1538R;ENSP00000374443:H1538R	ENSP00000374443:H1538R	H	-	2	0	LYST	234018699	1.000000	0.71417	0.857000	0.33713	0.996000	0.88848	7.105000	0.77031	2.045000	0.60652	0.460000	0.39030	CAT		0.413	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097533.5			3	25	0	0	0	1	0	3	25				
C21orf2	755	broad.mit.edu	37	21	45753014	45753014	+	Missense_Mutation	SNP	A	A	G			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr21:45753014A>G	ENST00000339818.4	-	4	482	c.275T>C	c.(274-276)cTg>cCg	p.L92P	C21orf2_ENST00000397956.3_Missense_Mutation_p.L92P|C21orf2_ENST00000325223.7_Missense_Mutation_p.L92P|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000496321.1_5'UTR	NM_001271440.1|NM_004928.2	NP_001258369.1|NP_004919.1	O43822	CU002_HUMAN	chromosome 21 open reading frame 2	92					cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				endometrium(2)	2				Colorectal(79;0.0806)		GGCCAGCCACAGCACCCGCAG	0.687																																						ENST00000339818.4																			0				endometrium(2)	2						c.(274-276)cTg>cCg		chromosome 21 open reading frame 2							15.0	17.0	17.0					21																	45753014		2190	4265	6455	SO:0001583	missense	755							g.chr21:45753014A>G	Y11392	CCDS13709.1, CCDS59444.1, CCDS59445.1	21q22.3	2014-03-24			ENSG00000160226	ENSG00000160226			1260	protein-coding gene	gene with protein product	"""nuclear encoded mitochondrial protein"", ""leucine rich repeat containing 76"""	603191				9465297	Standard	NM_004928		Approved	YF5, A2, LRRC76	uc002zeq.2	O43822	OTTHUMG00000086909	ENST00000339818.4:c.275T>C	21.37:g.45753014A>G	ENSP00000344566:p.Leu92Pro					C21orf2_ENST00000325223.7_Missense_Mutation_p.L92P|AP001062.7_ENST00000448927.1_RNA|C21orf2_ENST00000397956.3_Missense_Mutation_p.L92P|C21orf2_ENST00000496321.1_5'UTR	p.L92P	NM_004928.2	NP_004919.1	O43822	CU002_HUMAN		Colorectal(79;0.0806)	4	482	-			92					A8MPS9|O14993|Q8N5X6|Q99837|Q99838	Missense_Mutation	SNP	ENST00000339818.4	37	c.275T>C	CCDS13709.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.681739	0.88542	.	.	ENSG00000160226	ENST00000339818;ENST00000380160;ENST00000397956;ENST00000325223	T;T;T	0.57273	0.41;0.41;0.41	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000001	T	0.76912	0.4054	M	0.90922	3.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.997;0.999;0.999	T	0.82317	-0.0517	10	0.87932	D	0	-25.9191	12.5218	0.56065	1.0:0.0:0.0:0.0	.	92;92;92;51	G5E952;Q8N5X6;O43822;O43822-2	.;.;CU002_HUMAN;.	P	92;128;92;92	ENSP00000344566:L92P;ENSP00000381047:L92P;ENSP00000317302:L92P	ENSP00000317302:L92P	L	-	2	0	C21orf2	44577442	1.000000	0.71417	0.992000	0.48379	0.968000	0.65278	6.732000	0.74790	2.009000	0.58944	0.533000	0.62120	CTG		0.687	C21orf2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195799.1	NM_004928		3	11	0	0	0	1	0	3	11				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			0							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			6	44	0	0	0	1	0	6	44				
DNAH17	8632	broad.mit.edu	37	17	76565292	76565292	+	Missense_Mutation	SNP	A	A	T			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr17:76565292A>T	ENST00000585328.1	-	9	1364	c.1240T>A	c.(1240-1242)Ttt>Att	p.F414I	DNAH17_ENST00000389840.5_Missense_Mutation_p.F414I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	414	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATCCTGGAAAAGGCAAGAGAA	0.478																																						ENST00000389840.5																			0				NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(1240-1242)Ttt>Att		dynein, axonemal, heavy chain 17							65.0	65.0	65.0					17																	76565292		2203	4299	6502	SO:0001583	missense	8632							g.chr17:76565292A>T	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.1240T>A	17.37:g.76565292A>T	ENSP00000465516:p.Phe414Ile					DNAH17_ENST00000585328.1_Missense_Mutation_p.F414I	p.F414I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		9	1364	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Missense_Mutation	SNP	ENST00000585328.1	37	c.1240T>A		.	.	.	.	.	.	.	.	.	.	A	15.96	2.987577	0.53934	.	.	ENSG00000187775	ENST00000300671;ENST00000389840	T	0.60040	0.22	4.99	4.99	0.66335	.	0.713712	0.11933	N	0.515546	T	0.80581	0.4650	M	0.90198	3.095	0.36912	D	0.89094	D	0.89917	1.0	D	0.87578	0.998	D	0.83809	0.0240	10	0.87932	D	0	.	12.9129	0.58190	1.0:0.0:0.0:0.0	.	116	Q9UFH2-4	.	I	414	ENSP00000374490:F414I	ENSP00000300671:F414I	F	-	1	0	DNAH17	74076887	0.998000	0.40836	0.755000	0.31263	0.068000	0.16541	4.815000	0.62634	1.878000	0.54408	0.459000	0.35465	TTT		0.478	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		4	11	0	0	0	1	0	4	11				
LINC00969	440993	broad.mit.edu	37	3	195395399	195395399	+	lincRNA	SNP	G	G	A	rs62287990	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr3:195395399G>A	ENST00000445430.1	+	0	806									long intergenic non-protein coding RNA 969																		GGCTACGGGCGCACCTACTTG	0.607																																						ENST00000445430.1																			0																																																			0							g.chr3:195395399G>A	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195395399G>A														0	806	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.607	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	19	0	0	0	1	0	3	19				
OR5L1	219437	broad.mit.edu	37	11	55579307	55579307	+	Missense_Mutation	SNP	G	G	A	rs112907233	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr11:55579307G>A	ENST00000333973.2	+	1	454	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	122						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCCTATGACCGCTTTGTGGCC	0.522																																						ENST00000333973.2																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78						c.(364-366)cGc>cAc		olfactory receptor, family 5, subfamily L, member 1		G	HIS/ARG	2,4398	4.2+/-10.8	0,2,2198	209.0	173.0	185.0		365	2.3	0.4	11	dbSNP_132	185	0,8592		0,0,4296	yes	missense	OR5L1	NM_001004738.1	29	0,2,6494	AA,AG,GG		0.0,0.0455,0.0154	benign	122/312	55579307	2,12990	2200	4296	6496	SO:0001583	missense	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579307G>A	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.365G>A	11.37:g.55579307G>A	ENSP00000335529:p.Arg122His						p.R122H	NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN			1	454	+		all_epithelial(135;0.208)	122					B2RNK6|Q6IFD0	Missense_Mutation	SNP	ENST00000333973.2	37	c.365G>A	CCDS31509.1	.	.	.	.	.	.	.	.	.	.	g	16.04	3.009204	0.54361	4.55E-4	0.0	ENSG00000186117	ENST00000333973	T	0.77489	-1.1	4.18	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	0.129928	0.35772	N	0.002992	T	0.77096	0.4080	M	0.85630	2.765	0.27008	N	0.96474	B	0.13145	0.007	B	0.15484	0.013	T	0.70328	-0.4902	10	0.66056	D	0.02	-18.8028	8.8218	0.35030	0.1891:0.0:0.8109:0.0	.	122	Q8NGL2	OR5L1_HUMAN	H	122	ENSP00000335529:R122H	ENSP00000335529:R122H	R	+	2	0	OR5L1	55335883	1.000000	0.71417	0.404000	0.26397	0.975000	0.68041	5.283000	0.65621	0.254000	0.21573	0.435000	0.28638	CGC		0.522	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		40	88	0	0	0	1	0	40	88				
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs9424678|rs11370361|rs142440425		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											aaaccaaaaacaaaAAAAAAAG	0.416																																						ENST00000453618.1																			0													SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)																																						9554				ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding	g.chr1:145109312_145109313insA	AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145109322_145109322dupA										O75396	SC22B_HUMAN			0	512	+								A8K1G0	RNA	INS	ENST00000453618.1	37																																																																																						0.416	SEC22B-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000038523.5	NM_004892		3	3						3	3	---	---	---	---
OR2T2	401992	broad.mit.edu	37	1	248616705	248616711	+	Frame_Shift_Del	DEL	TGCTGCG	TGCTGCG	-	rs199823862|rs372931983		TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr1:248616705_248616711delTGCTGCG	ENST00000342927.3	+	1	629_635	c.607_613delTGCTGCG	c.(607-615)tgctgcgtgfs	p.CCV203fs		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	203						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GATGTATGCCTGCTGCGTGCTGATGCT	0.527																																						ENST00000342927.3																			0				cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(607-615)tgfs		olfactory receptor, family 2, subfamily T, member 2				51,3755		2,47,1854						-2.5	0.6			76	261,7371		12,237,3567	no	frameshift	OR2T2	NM_001004136.1		14,284,5421	A1A1,A1R,RR		3.4198,1.34,2.7277				312,11126				SO:0001589	frameshift_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616705_248616711delTGCTGCG	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.607_613delTGCTGCG	1.37:g.248616705_248616711delTGCTGCG	ENSP00000343062:p.Cys203fs						p.CCV203fs	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	629_635	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		203					B2RNM1|B9EH01	Frame_Shift_Del	DEL	ENST00000342927.3	37	c.607_613delTGCTGCG	CCDS31116.1																																																																																				0.527	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		13	30						13	30	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139904529	139904529	+	Frame_Shift_Del	DEL	G	G	-			TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr9:139904529delG	ENST00000371605.3	-	41	6545	c.6398delC	c.(6397-6399)ccgfs	p.P2133fs	ABCA2_ENST00000341511.6_Frame_Shift_Del_p.P2134fs|ABCA2_ENST00000265662.5_Frame_Shift_Del_p.P2134fs			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2133	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTCACACTGCGGGCAGTAGCC	0.706																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(6400-6402)cgfs		ATP-binding cassette, sub-family A (ABC1), member 2							10.0	13.0	12.0					9																	139904529		2119	4200	6319	SO:0001589	frameshift_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139904529delG	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6398delC	9.37:g.139904529delG	ENSP00000360666:p.Pro2133fs					ABCA2_ENST00000371605.3_Frame_Shift_Del_p.P2133fs|ABCA2_ENST00000341511.6_Frame_Shift_Del_p.P2134fs	p.P2134fs			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	42	6548	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	2133			ABC transporter 2.		A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Frame_Shift_Del	DEL	ENST00000371605.3	37	c.6401delC																																																																																					0.706	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		2	4						2	4	---	---	---	---
PARP4	143	broad.mit.edu	37	13	25075948	25075963	+	Frame_Shift_Del	DEL	CATTATCTAAGATTAT	CATTATCTAAGATTAT	-	rs145033589|rs146567108	byFrequency	TCGA-J8-A4HW-01A-11D-A257-08	TCGA-J8-A4HW-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fa0ebd-b25b-4384-b465-c19cd0cf5fa9	269e9978-ced5-4398-9523-947b064a3ca8	g.chr13:25075948_25075963delCATTATCTAAGATTAT	ENST00000381989.3	-	3	247_262	c.142_157delATAATCTTAGATAATG	c.(142-159)ataatcttagataatgctfs	p.IILDNA48fs		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	48	BRCT. {ECO:0000255|PROSITE- ProRule:PRU00033}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AGAACATCAGCATTATCTAAGATTATATGTGTGCAC	0.315																																						ENST00000381989.3																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(142-159)ctfs		poly (ADP-ribose) polymerase family, member 4																																				SO:0001589	frameshift_variant	143				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	g.chr13:25075948_25075963delCATTATCTAAGATTAT	AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.142_157delATAATCTTAGATAATG	13.37:g.25075948_25075963delCATTATCTAAGATTAT	ENSP00000371419:p.Ile48fs						p.IILDNA48fs	NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)	3	247_262	-		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)	48			BRCT.		O75903|Q14682|Q5QNZ9|Q9H1M6	Frame_Shift_Del	DEL	ENST00000381989.3	37	c.142_157delATAATCTTAGATAATG	CCDS9307.1																																																																																				0.315	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044189.1	NM_006437		11	39						11	39	---	---	---	---
